CIZ1: CDKN1A Interacting Zinc Finger Protein 1
A key regulator of DNA replication and cell cycle control, implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | CIZ1 |
|---|---|
| Full Name | CDKN1A interacting zinc finger protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 25792 ncbi.nlm.nih.gov/gene/25792 |
| Ensembl ID | ENSG00000148357 |
| UniProt ID | Q86VX9 |
| OMIM ID | 611420 |
| HGNC ID | 24571 |
| Aliases | LSFR1, ZNF356, NP94, CIZ |
Description
CIZ1 (CDKN1A interacting zinc finger protein 1) encodes a zinc finger protein that interacts with CDKN1A/p21 and plays a critical role in DNA replication and cell cycle progression. It is involved in the initiation of DNA replication by facilitating the assembly of the pre-replication complex. CIZ1 is also implicated in the regulation of cell proliferation and differentiation. Mutations and altered expression of CIZ1 have been associated with various cancers and neurological disorders, including cervical dystonia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cervical Dystonia (DYT23) | Missense mutations in CIZ1 disrupt its interaction with CDKN1A and alter DNA replication dynamics, leading to neuronal dysfunction. | OMIM #611420; ClinVar |
| Lung Cancer | Overexpression of CIZ1 promotes cell proliferation and tumor growth by enhancing DNA replication. | COSMIC; NCBI PubMed |
| Breast Cancer | CIZ1 overexpression correlates with poor prognosis and increased metastatic potential. | COSMIC; NCBI PubMed |
| Hepatocellular Carcinoma | CIZ1 upregulation is associated with tumor progression and resistance to apoptosis. | COSMIC; NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Liver | 6.7 | Low |
| Brain | 4.2 | Low |
| Testis | 15.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 14.2 | High expression |
| MCF7 (Breast) | 9.1 | Moderate expression |
| HepG2 (Liver) | 7.8 | Moderate expression |
| SH-SY5Y (Neuronal) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.790A>G (p.Ser264Gly) | Missense | Rare | Associated with cervical dystonia; alters protein function |
| c.1123C>T (p.Arg375Trp) | Missense | Rare | Reported in cervical dystonia; disrupts CDKN1A binding |
| c.1465G>A (p.Glu489Lys) | Missense | Rare | Potential gain-of-function in cancer |
| c.1742_1743insA (p.Asn581Lysfs*2) | Frameshift | Very rare | Loss-of-function; observed in tumor samples |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Asn581Lysfs*2) lead to truncated protein and loss of DNA replication regulatory function.
Gain of Function (GOF)
Missense mutations (e.g., p.Glu489Lys) may enhance CIZ1 stability or activity, promoting uncontrolled cell proliferation in cancer.
Dominant Negative (DN)
Missense mutations in the CDKN1A-binding domain (e.g., p.Ser264Gly) may interfere with wild-type CIZ1 function, contributing to dystonia pathogenesis.
View complete mutation data：
Gene Ontology (GO)
Pathways
• DNA replication (Reactome: R-HSA-69306)
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• p53-independent G1/S DNA damage checkpoint (Reactome: R-HSA-69620)
Protein Summary
CIZ1 is a 898-amino acid zinc finger protein that localizes to the nucleus and interacts with CDKN1A (p21). It functions as a component of the DNA replication licensing complex, essential for the initiation of DNA synthesis. CIZ1 contains multiple zinc finger domains and a nuclear localization signal. Its expression is cell cycle-regulated, peaking at the G1/S transition. The protein is involved in maintaining genomic stability and its dysregulation contributes to oncogenesis and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIZ1 Knockout HEK293 Cell Line | EDJ-KQ8228 | Human | 25792 | Details Get a Quote |
| CIZ1 Knockout A-549 Cell Line | EDJ-KQ34128 | Human | 25792 | Details Get a Quote |
| CIZ1 Knockout HCT 116 Cell Line | EDJ-KQ34129 | Human | 25792 | Details Get a Quote |
| CIZ1 Knockout HeLa Cell Line | EDJ-KQ32817 | Human | 25792 | Details Get a Quote |
